Variant report

Variant	rs12155679
Chromosome Location	chr8:124466260-124466261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124459866..124461765-chr8:124465960..124468688,3	K562	blood:
2	chr8:124460911..124462507-chr8:124464997..124466816,2	MCF-7	breast:
3	chr8:124463936..124466421-chr8:124769993..124771838,2	K562	blood:
4	chr8:124465898..124466585-chr8:124536989..124537967,2	MCF-7	breast:
5	chr8:124466204..124466710-chr8:124575524..124576463,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10092135	0.82[ASN][1000 genomes]
rs10096099	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102308	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102861	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543979	0.88[ASN][1000 genomes]
rs17330287	0.84[ASN][1000 genomes]
rs28386804	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3779985	0.85[ASN][1000 genomes]
rs3847178	0.87[ASN][1000 genomes]
rs3901852	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4460353	0.84[ASN][1000 genomes]
rs4871377	0.88[ASN][1000 genomes]
rs55822628	0.87[ASN][1000 genomes]
rs55896007	0.84[ASN][1000 genomes]
rs56098264	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59493118	0.87[ASN][1000 genomes]
rs62519216	0.81[ASN][1000 genomes]
rs6981304	0.88[ASN][1000 genomes]
rs6986525	0.88[ASN][1000 genomes]
rs7004120	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7008226	0.87[ASN][1000 genomes]
rs7012343	0.88[ASN][1000 genomes]
rs72709010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709014	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724209	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72724211	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724214	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7833321	0.88[ASN][1000 genomes]
rs7840703	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
2	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
3	chr8:124447600-124467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
6	chr8:124452000-124467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:124454000-124467400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:124454000-124467800	Weak transcription	Esophagus	oesophagus
9	chr8:124454000-124468200	Weak transcription	NHLF	lung
10	chr8:124454000-124472800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:124454000-124489400	Weak transcription	Gastric	stomach
13	chr8:124454400-124467600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:124454400-124478200	Weak transcription	HSMM	muscle
15	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:124454600-124467800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:124454600-124468400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:124454600-124477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:124454600-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:124454600-124489200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:124455000-124466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:124456200-124472400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:124459000-124472400	Weak transcription	HUVEC	blood vessel
25	chr8:124459200-124466800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:124459200-124467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:124459200-124468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:124459200-124472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:124459200-124473200	Weak transcription	HepG2	liver
30	chr8:124459200-124473800	Weak transcription	Primary B cells from cord blood	blood
31	chr8:124460400-124468400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:124460400-124468600	Weak transcription	Fetal Brain Female	brain
33	chr8:124460400-124472800	Weak transcription	Fetal Intestine Large	intestine
34	chr8:124460400-124472800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:124460400-124473000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:124461000-124466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:124461200-124467000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:124461200-124490200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:124461400-124469600	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:124461400-124476600	Weak transcription	Lung	lung
42	chr8:124461400-124478200	Weak transcription	Aorta	Aorta
43	chr8:124461400-124482200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:124461600-124472200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:124461600-124477600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:124461600-124486400	Weak transcription	A549	lung
47	chr8:124462200-124466400	Enhancers	Fetal Heart	heart
48	chr8:124462400-124467200	Enhancers	Left Ventricle	heart
49	chr8:124463000-124467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:124463400-124468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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